title: Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
abstract: BACKGROUND
  Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene.
  
  
  METHODS
  DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed.
  
  
  RESULTS
  Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation.
  
  
  CONCLUSIONS
  Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute , Philadelphia, PA , USA and.
authors.forename: Karthikeyan
authors.initials: K
authors.lastname: Arcot Sadagopan
authors.forename: Robert
authors.initials: R
authors.lastname: Battista
authors.forename: Rosanne B
authors.initials: RB
authors.lastname: Keep
authors.forename: Jenina E
authors.initials: JE
authors.lastname: Capasso
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005220:Fathers; D005799:Genes, Dominant; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009679:Nuclear Family; D010375:Pedigree; D017422:Sequence Analysis, DNA; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein
keywords: CRX; Leber congenital amaurosis; heterozygous mutation; isoelectric electroretinogram; retinal dystrophy